E39V (p.Glu39Val) variant of SOS1 (Son of sevenless homolog 1)
E39V (p.Glu39Val) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of RASopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E39V (p.Glu39Val) variant details
- p.Glu39Val
- rs1391761076
- ClinGen CA346374310
- ClinVar RCV002601393
- ClinVar RCV003289541
- Conflicting interpretations
- RASopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.18
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (RASopathy; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available